Cerebrospinal fluid choline levels are decreased in Parkinson's disease

We examined acetylcholinsterase (AChE) activity and choline levels in cerebrospinal fluid (CSF) in 16 patients with idiopathic Parkinson's disease and 9 control subjects of corresponding age: 8 were untreated Parkinson's patients; 4 were treated with carbidopa-levodopa (100/1,000 mg/day) for 20 +/- 3 months; and 4 were treated with carbidopa-levodopa (110/1,100 mg/day) for 28 +/- 18 months plus amantadine (200 mg/day) for 16 +/- 8 months. CSF choline levels (nmol/ml) were 2.97 +/- 0.79 (control subjects); 1.31 +/- 0.29 (untreated patients); 1.00 +/- 0.29 (carbidopa-levodopa treated); and 1.26 +/- 0.19 (carbidopa-levodopa/amantadine treated). Choline levels were significantly lower in untreated and treated patients compared to control subjects (p = 0.0001). AChE activity did not differ in Parkinson's disease patients as compared to control subjects. The reduced level of choline in CSF may reflect a deficit in choline transport into the brain or a decrease of choline-phospholipid output from the brain.     

Charcot-Marie-Tooth disease and schizophrenia in identical twins

Charcot-Marie-Tooth disease and schizophrenia occurred in monozygotic twins. Dermatoglyphics and blood grouping determined monozygocity. Charcot-Marie-Tooth disease appeared to be an autosomal dominant trait transmitted from the mother. No definite evidence of inheritance was seen for schizophrenia.     

Huntington's disease. Cerebrospinal fluid GABA levels in at-risk individuals.

Gamma-aminobutyric acid (GABA) was measured by the ion-exchange fluorometric method in CSF from 22 individuals at risk for Huntington's disease (HD), six individuals with HD, and five neurologically normal controls. The mean (+/- SD) GABA level in the specimens from patients with HD was 142 +/- 27 pmoles/ml, whereas that of the normal control specimens was 297 +/- 87 pmoles/ml. The mean GABA level of the specimens from the individuals at risk for HD was 209 +/- 79 pmoles/ml; however, nine of these were in the normal range with a mean value of 281 +/- 72 pmoles/ml, while the other 13 were below the normal range with a mean value of 159 +/- 27 pmoles/ml. The data indicate that low GABA levels in CSF are evident prior to the onset of symptoms of HD but a predictive value can only be determined by continued observation of the clinical course of these at-risk individuals.     

Isoniazid-induced elevation of CSF GABA levels and effects on chorea in huntington's disease

A randomized, double-blind, crossover, placebo-controlled clinical trial of oral isoniazid was undertaken in eight men with known Huntington's disease. Six completed the trial. Overall chorea scores indicated some amelioration, but clinical improvement was noticed in only two patients and was mild. Side effects included anorexia and elevation of liver enzyme levels. Cerebrospinal fluid (CSF) and plasma γ-aminobutyric acid (GABA) concentrations were measured simultaneously. Mean CSF GABA increased threefold following treatment with isoniaid (414 ± 52 SEM pmol/ml) compared to placebo (120 ± 11 pmol/ml). No significant changes occurred in plasma GABA levels between the placebo and drug treatment phases. Reversal of central GABA deficiency appears not to correct extrapyramidal symptoms in Huntington's disease.     

Risk factors associated with acute kidney injury in extremely low birth weight (ELBW) infants

The aim of this study was to determine the incidence, risk factors, and outcome of acute kidney injury (AKI) in extremely low birth weight (ELBW) infants. In a case–control study, medical records of all ELBW infants who were admitted to our Neonatal Intensive Care Unit (NICU) between 1 January 2000 and 31 January 2008 were reviewed. During the study period, 12.5% (59/472) of all ELBW infants developed AKI. Forty-six infants with available medical records were matched to 46 controls. The mean gestational age and birth weight of infants with AKI and their controls were 24.7 ± 1.8 vs. 24.9 ± 1.9 weeks (p = 0.61) and 614 ± 128 vs. 616 ± 127 g (p = 0.93), respectively. Infants with AKI had a higher mean airway pressure, a lower mean arterial blood pressure, and higher exposure to cefotaxime than their controls. Infants with AKI also had an increased mortality in comparison to their controls [33/46 (70%) vs. 10/46 (22%), respectively; p < 0.0001), and oliguric patients had a higher mortality than nonoliguric patients [31/38 (81%) vs. 2/8 (25%), respectively, p = 0.003]. Based on our results, we conclude that a high mean airway pressure, low blood pressure, and the use of cefotaxime are associated with renal failure in ELBW infants. AKI in ELBW infants is also associated with an increased mortality, especially in the presence of oliguria.     

Preliminary results from the LUX-Dx insertable cardiac monitor remote programming and performance (LUX-Dx PERFORM) study

Despite the wide adoption of insertable cardiac monitors (ICMs), high false-positive rates, suboptimal signal quality, limited ability to detect atrial flutter, and lack of remote programming remain challenging. The LUX-Dx PERFORM study was designed to evaluate novel technologies engineered to address these issues. Here, we present preliminary results from the trial focusing on the safety of ICM insertion, remote monitoring rates, and the feasibility of remote programming. LUX-Dx PERFORM is a multicenter, prospective, single-arm, post-market, observational study with planned enrollment of up to 827 patients from 35 sites in North America. A preliminary cohort consisting of the first 369 patients who were enrolled between March and October 2021 was selected for analysis. Three hundred sixty-three (363) patients had ICM insertions across inpatient and outpatient settings. The mean time followed was 103.4 ± 61.8 days per patient. The total infection rate was 0.8% (3/363). Interim results show high levels of remote monitoring with a median 94% of days with data transmission (interquartile range: 82–99). Thirteen (13) in-clinic and 24 remote programming sessions were reported in 34 subjects. Reprogramming examples are presented to highlight signal quality, the ability to detect atrial flutter, and the positive impact of remote programming on patient management. Interim results from LUX-Dx PERFORM study demonstrate the safety of insertion, high data transmission rates, the ability to detect atrial flutter, and the feasibility of remote programming to optimize arrhythmia detection and improve clinical workflow. Future results from LUX-Dx PERFORM will further characterize improvements in signal quality and arrhythmia detection.